A57P (p.Ala57Pro) variant of KCNH2 (hERG)
A57P (p.Ala57Pro) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- rs199472846
- ClinGen CA005160
- ClinVar RCV000057951
- ClinVar RCV001212247
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.33
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.28
- SIFT 0.04
- MutPred 0.51
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 81.5
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)